ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131932294C>A , CM000674.2:g.131932294C>A | GRCh38 |
| NC_000012.11:g.132416839C>A , CM000674.1:g.132416839C>A | GRCh37 |
| NC_000012.10:g.130982792C>A | NCBI36 |
| NG_013039.1:g.8095C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.423C>A MANE Select | ENSP00000365837.3:p.Arg141= | |
| ENST00000322060.9:c.339C>A | ENSP00000324726.5:p.Arg113= | |
| ENST00000376649.7:c.423C>A | ENSP00000365837.3:p.Arg141= | |
| ENST00000443358.6:c.339C>A | ENSP00000392451.2:p.Arg113= | |
| ENST00000456665.6:c.339C>A | ENSP00000409705.2:p.Arg113= | |
| ENST00000535067.5:c.339C>A | ENSP00000443969.1:p.Arg113= | |
| ENST00000537484.1:c.339C>A | ENSP00000440179.1:p.Arg113= | |
| ENST00000538037.5:c.339C>A | ENSP00000440326.2:p.Arg113= | |
| ENST00000542167.2:c.264C>A | ENSP00000438948.1:p.Arg88= | |
| ENST00000544213.5:c.423C>A | ENSP00000445819.1:p.Arg141= | |
| ENST00000544662.1:n.450C>A | ||
| NM_001002019.2:c.339C>A | NP_001002019.1:p.Arg113= | |
| NM_001002020.2:c.339C>A | NP_001002020.1:p.Arg113= | |
| NM_025215.5:c.423C>A | NP_079491.2:p.Arg141= | |
| XM_011538768.1:c.24C>A | XP_011537070.1:p.Arg8= | |
| XM_011538769.1:c.423C>A | XP_011537071.1:p.Arg141= | |
| XR_944737.1:n.878C>A | ||
| XM_011538768.3:c.24C>A | XP_011537070.1:p.Arg8= | |
| XM_011538769.2:c.423C>A | XP_011537071.1:p.Arg141= | |
| XR_001748872.1:n.878C>A | ||
| NM_001002019.3:c.339C>A | NP_001002019.1:p.Arg113= | |
| NM_001002020.3:c.339C>A | NP_001002020.1:p.Arg113= | |
| NM_025215.6:c.423C>A MANE Select | NP_079491.2:p.Arg141= |